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NM_000478.6(ALPL):c.212G>A (p.Arg71His) AND Infantile hypophosphatasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004556085.1

Allele description [Variation Report for NM_000478.6(ALPL):c.212G>A (p.Arg71His)]

NM_000478.6(ALPL):c.212G>A (p.Arg71His)

Gene:
ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_000478.6(ALPL):c.212G>A (p.Arg71His)
HGVS:
  • NC_000001.11:g.21561127G>A
  • NG_008940.1:g.56763G>A
  • NM_000478.6:c.212G>AMANE SELECT
  • NM_001127501.4:c.47G>A
  • NM_001177520.3:c.66+382G>A
  • NM_001369803.2:c.212G>A
  • NM_001369804.2:c.212G>A
  • NM_001369805.2:c.212G>A
  • NP_000469.3:p.Arg71His
  • NP_001120973.2:p.Arg16His
  • NP_001356732.1:p.Arg71His
  • NP_001356733.1:p.Arg71His
  • NP_001356734.1:p.Arg71His
  • NC_000001.10:g.21887620G>A
  • NM_000478.4:c.212G>A
Protein change:
R16H
Links:
dbSNP: rs121918003
NCBI 1000 Genomes Browser:
rs121918003
Molecular consequence:
  • NM_001177520.3:c.66+382G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000478.6:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Infantile hypophosphatasia
Identifiers:
MedGen: C0268412; Orphanet: 436; OMIM: 241500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005045309Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital
no assertion criteria provided
Pathogenic
(Feb 1, 2024)
maternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiamaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital, SCV005045309.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asia1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024